National Prion Disease Pathology Surveillance Center

The center is supported by the CDC and sponsored by the American Association of Neuropathologists.

The National Prion Disease Pathology Surveillance Center (NPDPSC) was established in 1997 at the Division of Neuropathology of Case Western Reserve University. Several European countries also have established surveillance centers to monitor the occurrence of prion diseases or spongiform encephalopathies, in response to the epidemic of Bovine Spongiform Encephalopathy (BSE), also known as "mad cow disease," which occurred in the United Kingdom during the 1980s. The center studies and tracks the following prion diseases.

Human Prion Diseases Animal Prion Diseases
  • Creutzfeldt-Jakob Disease (CJD)
  • Variant Creutzfeldt-Jakob Disease (vCJD)
  • Gerstmann-Straussler-Scheinker Syndrome (GSS)
  • Fatal Familial Insomnia (FFI)
  • Bovine Spongiform Encephalopathy (BSE)
  • Chronic Wasting Disease (CWD)
  • Scrapie
  • Transmissible Mink Encephalopathy
  • Feline Spongiform Encephalopathy
  • Ungulate Spongiform Encephalopathy

Purposes of the Center

  • Acquire tissue samples and clinical information from as many cases of human prion disease occurring in the United States as possible in order to help monitor the possible occurrence of variant CJD (vCJD) in the USA.
  • Help establish the diagnosis of prion disease by analyzing cerebrospinal fluid (CSF), blood, and brain tissue obtained either at biopsy or autopsy.
  • Identify the precise type of prion disease (sporadic, familial, or acquired) by examining the prion protein and the prion protein gene, once the diagnosis of prion disease has been established.
  • Report findings to caregivers in a timely fashion.
  • Transfer the data obtained to the Centers for Disease Control and Prevention (CDC) and the Health Departments of the individual states in order to monitor the prevalence of prion diseases in the USA and investigate possible cases in which the disease has been acquired from other humans or from animals.
  • Store tissues for future studies conducted at the NPDPSC as well as at other laboratories around the world.

Diagnostic Activities of the Center

  • In CSF: Search for the presence of the 14-3-3 protein. The 14-3-3 protein is a marker for some prion diseases, such as Creutzfeldt-Jakob disease (CJD), when a number of other neurodegenerative conditions are excluded. Recently we have introduced RT-QuIC (real-time quaking-induced conversion) a new test to detect the abnormal prion protein.
  • In DNA extracted from blood, brain, or other tissues: Search for the presence of mutation in the prion protein gene and determine the polymorphism at codon 129 and at other codons.
  • In unfixed brain tissue obtained either at biopsy or autopsy: Search for the presence and establish the type of the abnormal, protease-resistant form of the prion protein, also known as scrapie prion protein (PrPSc).
  • On fixed brain tissue: Exclude or confirm and characterize the prion disease by microscopic examination following ordinary histological procedures and immunohistochemical demonstration of the prion protein, as well as pattern of tissue distribution.

Only frozen brain tissue examination definitely confirms or excludes the diagnosis of prion disease and provides the information to identify the type of prion disease. The immunohistochemical examination provides a definitive diagnosis only when positive. The CSF and blood examinations provide information that may be very helpful to caring physicians in making a clinical diagnosis.